title: Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
authors.affiliation: Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Katsumata
authors.forename: A
authors.initials: A
authors.lastname: Tanae
authors.forename: T
authors.initials: T
authors.lastname: Shinagawa
authors.forename: A
authors.initials: A
authors.lastname: Nagashima-Miyokawa
authors.forename: M
authors.initials: M
authors.lastname: Shimizu
authors.forename: T
authors.initials: T
authors.lastname: Yasunaga
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: I
authors.initials: I
authors.lastname: Hibi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007564:Japan; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017384:Sequence Deletion; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein; D004247:DNA